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Canadian Respiratory Journal
Volume 18, Issue 2, Pages 87-89
Case Report

Presentation and Treatment of Monozygotic Twins with Congenital Central Hypoventilation Syndrome

Reshma Amin,1,2 Andrea Riekstins,1,2 Suhail Al-Saleh,1,2,3 Colin Massicotte,1,2 Allan L Coates,1,2 and Ian MacLusky4

1Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Canada
2University of Toronto, Toronto, Ontario, Canada
3Division of Pediatric Respiratory Medicine, Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
4Division of Pediatric Respiratory Medicine, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada

Copyright © 2011 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation during sleep secondary to a blunted response to hypercapnia and hypoxia. The current case report describes developmentally normal four-year-old monozygotic twin boys who presented in infancy with variable presentations and clinical severity of congenital central hypoventilation syndrome. Both were managed with noninvasive positive pressure ventilation.